Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E492K

NFE2L2

1,072 papers

RefSeq Summary

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant respons...

Pfam Domains

bZIP_Mafaa 395–488UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

NFE2 like bZIP transcription factor 2

HGNC Alias Symbols

NRF2; NRF-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006164.5
p.E492K
c.1474G>A
Surrounding Variants
1 paper
NM_006164.5
p.N491S
c.1472A>G
1 paper
NM_006164.5
p.A493P
c.1477G>C
1 paper
NM_006164.5
p.A493T
c.1477G>A
1 paper
NM_006164.5
p.Q494H
c.1482A>T
1 paper
NM_006164.5
p.Q494H
c.1482A>C
1 paper
NM_006164.5
p.E488delFs
c.1462_1463delTC
1 paper
NM_006164.5
p.A496V
c.1487C>T
1 paper
NM_006164.5
p.I498T
c.1493T>C
1 paper
NM_006164.5
p.M485K
c.1454T>A
8 papers
NM_006164.5
p.R499W
c.1495C>T
1 paper
NM_006164.5
p.R499L
c.1496G>T
1 paper
NM_006164.5
p.D500A
c.1499A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."